Logo image
Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes
Journal article   Open access   Peer reviewed

Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes

Richard C Edmunds, Baofeng Su, James P Balhoff, B Frank Eames, Wasila M Dahdul, Hilmar Lapp, John G Lundberg, Todd J Vision, Rex A Dunham, Paula M Mabee, …
Molecular biology and evolution, v 33(1), pp 13-24
Jan 2016
PMID: 26500251
url
https://academic.oup.com/mbe/article-pdf/33/1/13/7953079/msv223.pdfView
Published, Version of Record (VoR) Open
url
https://doi.org/10.1093/molbev/msv223View
Published, Version of Record (VoR) Open

Abstract

Animals Catfishes - genetics Computational Biology Evolution, Molecular Gene Expression - genetics Gene Expression - physiology Models, Genetic Phenotype Software
Phenotypes resulting from mutations in genetic model organisms can help reveal candidate genes for evolutionarily important phenotypic changes in related taxa. Although testing candidate gene hypotheses experimentally in nonmodel organisms is typically difficult, ontology-driven information systems can help generate testable hypotheses about developmental processes in experimentally tractable organisms. Here, we tested candidate gene hypotheses suggested by expert use of the Phenoscape Knowledgebase, specifically looking for genes that are candidates responsible for evolutionarily interesting phenotypes in the ostariophysan fishes that bear resemblance to mutant phenotypes in zebrafish. For this, we searched ZFIN for genetic perturbations that result in either loss of basihyal element or loss of scales phenotypes, because these are the ancestral phenotypes observed in catfishes (Siluriformes). We tested the identified candidate genes by examining their endogenous expression patterns in the channel catfish, Ictalurus punctatus. The experimental results were consistent with the hypotheses that these features evolved through disruption in developmental pathways at, or upstream of, brpf1 and eda/edar for the ancestral losses of basihyal element and scales, respectively. These results demonstrate that ontological annotations of the phenotypic effects of genetic alterations in model organisms, when aggregated within a knowledgebase, can be used effectively to generate testable, and useful, hypotheses about evolutionary changes in morphology.

Metrics

7 Record Views
40 citations in Scopus

Details

UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

InCites Highlights

Data related to this publication, from InCites Benchmarking & Analytics tool:

Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Biochemistry & Molecular Biology
Evolutionary Biology
Genetics & Heredity
Logo image